Mouse Genome Informatics
hm
    Nogtm1Amc/Nogtm1Amc
either: (involves: 129S1/Sv * C57BL/6) or (involves: 129S1/Sv * CD-1 * ICR)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
embryogenesis
• at E11.5 embryos show open brain phenotype
• at E11.5 caudal neural tube is open
• abnormal at E8.5 and E9, indicating delayed detachment from dorsal foregut endoderm; appears hypertrophic compared to wild-type at E9
• no clear boundary between notochord and endoderm is detected at E8.5
• at E9.5, notochord has lateral branches close to or tethered to dorsal foregut in contrast to wild-type notochord
• increased apoptotic cell numbers are seen at E9.5-E9.75
• non-notochordal cells are observed within the notochord at E9.0

digestive/alimentary system
• at E9.5, reduction in dorsoventral diameter of the foregut is observed; dorsal foregut endoderm is reduced in mutant embryos
• loosening or loss of dorsal foregut cells is consistently observed at E9; endodermal cells show basement membrane disruption
• severe narrowing of the esophagus is seen by E9.5
• at E10.5-11.5 most mutants display Type C esophageal atresia/tracheoesophageal fistula (EA/TEF); some embryos show milder phenotype indicative of esophageal stenosis
• at E10.5-11.5, >80% of embryos display Type C esophageal atresia/tracheoesophageal fistula (EA/TEF)
• at E10.5-11.5, >80% of embryos display Type C esophageal atresia/tracheoesophageal fistula (EA/TEF) with the upper esophagus ending in a blind pouch and the lower esophagus connects to the trachea via a fistula

nervous system
• at E11.5 embryos show open brain phenotype
• at E11.5 caudal neural tube is open

respiratory system
• at E10.5-11.5, >80% of embryos display Type C esophageal atresia/tracheoesophageal fistula (EA/TEF) with the upper esophagus ending in a blind pouch and the lower esophagus connects to the trachea via a fistula

Mouse Models of Human Disease
OMIM IDRef(s)
Tracheoesophageal Fistula with or without Esophageal Atresia 189960 J:118341